Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108Emutation

Blood

Volumn 124, Issue 12, 2014, Pages 1894-1904

  Salem, Sandra ^a   Langlais, David ^a   Lefebvre, François ^a   Bourque, Guillaume ^a   Bigley, Venetia ^b   Haniffa, Muzz ^b   Casanova, Jean Laurent ^c,d,e   Burk, David ^a   Berghuis, Albert ^a   Butler, Karina M ^f   Leahy, Timothy Ronan ^f   Hambleton, Sophie ^b   Gros, Philippe ^a  

^a MCGILL UNIVERSITY   (Canada)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c IMAGINE INSTITUTE   (France)

^d ROCKEFELLER UNIVERSITY   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^f OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

CD123 ANTIGEN; CYCLOHEXIMIDE; GLYCOPROTEIN P 15095; INTERFERON CONSENSUS SEQUENCE BINDING PROTEIN; UBIQUITIN; INTERFERON REGULATORY FACTOR; MUTANT PROTEIN; RNA;

ANTIGEN PRESENTING CELL; ARTICLE; BLOOD CELL; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CORD BLOOD STEM CELL TRANSPLANTATION; DENDRITIC CELL; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERPLASIA; IMMUNE DEFICIENCY; IN VITRO STUDY; INFANT; INNATE IMMUNITY; MONOCYTE; MYCOBACTERIOSIS; MYCOSIS; PLASMACYTOID DENDRITIC CELL; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTEIN STABILITY; RNA SEQUENCE; UBIQUITINATION; AMINO ACID SUBSTITUTION; ANTIGEN PRESENTATION; CLONAL ANERGY; DEFICIENCY; FEMALE; GENETICS; HEK293 CELL LINE; HOMOZYGOTE; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; METABOLISM; MISSENSE MUTATION; T LYMPHOCYTE SUBPOPULATION;

AMINO ACID SUBSTITUTION; ANTIGEN PRESENTATION; CLONAL ANERGY; CORD BLOOD STEM CELL TRANSPLANTATION; DENDRITIC CELLS; FEMALE; HEK293 CELLS; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; INTERFERON REGULATORY FACTORS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MUTANT PROTEINS; MUTATION, MISSENSE; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN STABILITY; RNA; T-LYMPHOCYTE SUBSETS;

EID: 84907260701     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-04-570879     Document Type: Article

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